Novel mutation in the ?7-dehydrocholesterol reductase gene in an Australian patient with Smith-Lemli-Opitz syndrome
- Resource Type
- Authors
- Carol Wicking; Timothy Evans; W.F. Carey; Michael Fietz; Brandon J. Wainwright; Ian A. Glass; Alisa Poh; Charlotte Webb
- Source
- American Journal of Medical Genetics. 103:344-347
- Subject
- Genetics
medicine.medical_specialty
Reductase
Biology
medicine.disease
Endocrinology
Delta 7-sterol reductase
Smith–Lemli–Opitz syndrome
Internal medicine
medicine
Gene
Novel mutation
Genetics (clinical)
Cholesterol biosynthesis
- Language
- ISSN
- 1096-8628
0148-7299